Linked Data
ClinVar Variation Id:
352724
ClinVar RCV Id:
RCV000325536
dbSNP Id:
rs35951290
gnomAD v2:
5-171760544-T-TA
gnomAD v3:
5-172333540-T-TA
gnomAD v4:
5-172333540-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.172333553dup , CM000667.2:g.172333553dup | GRCh38 |
| NC_000005.9:g.171760557dup , CM000667.1:g.171760557dup | GRCh37 |
| NC_000005.8:g.171693162dup | NCBI36 |
| NG_027746.1:g.125983dup | |
| NG_027746.2:g.125983dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000311601.6:c.*4828dup MANE Select | ENSP00000309714.5:n.*4828dup | |
| ENST00000636523.1:c.1229-8161dup | ||
| ENST00000311601.5:c.*4828dup | ENSP00000309714.5:n.*4828dup | |
| ENST00000518522.5:c.429dup | ||
| ENST00000519643.5:c.1189-8161dup | ENSP00000430890.1:n.1189-8161dup | |
| ENST00000523651.1:n.348dup | ||
| NM_001017995.2:c.*4828dup | NP_001017995.1:n.*4828dup | |
| NM_001308175.1:c.1189-8161dup | NP_001295104.1:n.1189-8161dup | |
| XM_017009351.1:c.*4828dup | XP_016864840.1:n.*4828dup | |
| NM_001017995.3:c.*4828dup MANE Select | NP_001017995.1:n.*4828dup | |
| NM_001308175.2:c.1189-8161dup | NP_001295104.1:n.1189-8161dup |